Opening sequence computational genomics in the era of high-throughput sequencing 英文参考文献.docVIP

Chambers et al. Genome Biology 2011,12:310 /2011/12/12/310 MEE TING REPORT Opening sequence: computational genomics in the era of high-throughput sequencing Emily V Chambers*, Alida S Kindt and Colin AM Semple sequencing datasets, matched by a limited number of Abstract people capable of extracting knowledge from them. is A report on the 11th Cold Spring Harbor Laboratory/ Wellcome Trust conference on Genome Informatics, Cold Spring Harbor Laboratories, New York, USA, November 2-5, 2011. quandary is now feeding software development, with the aim of providing computational environments to enable data analysis by the computationally challenged: in- variably icon-driven or menu-driven interfaces to Keywords Bioinformatics, genomics, transcriptomics. command line tools. Work describing such developments was a major theme at this meeting. As we get these ?rst glimpses of the universe of human genomic variation, much emphasis is on reliable sequence It has now been a decade since the completion of the human genome project, but it is clear that much of its variant calling and discovery. ere is a more neglected biomedical potential is still to be realized. With the question, ‘Which disease variants detected are most advent of low-cost, high-throughput sequencing (HTS) func tionally meaningful?’ is was addressed by Marc technologies, there is now an abundance of genomic, transcriptomic and epigenomic data. Projects to sequence Fiume (University of Toronto, Canada), whose talk focused on the development of MedSavant (http://genomesavant. thousands of new human genomes (UK10K project; com/medsavant/), a downloadable tool that attempts to /) and the genomes of thousands of new species (Genome 10K; /) are already underway. e ?ood of new data is causing major shifts in bioinformatics. Only a few years ago discriminate disease-